AiPD: Autoinhibited Protein Database

Q96EN9

Gene name	REX1BD
Protein name	Required for excision 1-B domain-containing protein
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55049
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-53 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-53 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q96EN9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96EN9-F1	Predicted				AlphaFoldDB

191 variants for Q96EN9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs986244216 CA306253796	6	A>P		No	ClinGen Ensembl
rs911745076 CA306253803	7	A>T		No	ClinGen Ensembl
rs1471293467 CA404848593	7	A>V		No	ClinGen TOPMed
TCGA novel	8	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs568105805 CA306253804	9	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA306253805 rs944512091	10	T>A		No	ClinGen Ensembl
rs753691744 CA404848612	10	T>M		No	ClinGen ExAC TOPMed gnomAD
rs753691744 CA9313760	10	T>R		No	ClinGen ExAC TOPMed gnomAD
CA9313762 rs778635257	11	V>L		No	ClinGen ExAC gnomAD
rs1207083420 CA404848622	12	P>L		No	ClinGen TOPMed
rs1204379336 CA404848629	13	A>V		No	ClinGen gnomAD
CA404848640 rs1428924432	15	P>L		No	ClinGen gnomAD
rs1182980013 CA404848638	15	P>S		No	ClinGen TOPMed gnomAD
rs1479564116 CA404848649	17	A>P		No	ClinGen TOPMed gnomAD
rs930561372 CA306253832	17	A>V		No	ClinGen TOPMed gnomAD
rs1451563851 CA404848661	19	E>K		No	ClinGen TOPMed
rs1426964619 CA404848676	21	T>A		No	ClinGen gnomAD
rs1328036227 CA404848687	22	E>D		No	ClinGen TOPMed gnomAD
rs937445540 CA306253862	24	R>P		No	ClinGen TOPMed
CA306253870 rs1010688673	25	G>R		No	ClinGen TOPMed
CA306253871 rs1056260534	26	R>G		No	ClinGen TOPMed gnomAD
rs1308098613 CA404848707	26	R>P		No	ClinGen gnomAD
CA404848704 rs1056260534	26	R>S		No	ClinGen TOPMed gnomAD
CA404848709 rs1344530536	27	E>*		No	ClinGen gnomAD
CA9313764 rs757894866	29	P>L		No	ClinGen ExAC TOPMed gnomAD
CA404848728 rs757894866	29	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs777327574 CA9313765	30	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1214500913 CA404848734	30	A>V		No	ClinGen gnomAD
rs537150436 CA306253890	32	P>T		No	ClinGen 1000Genomes gnomAD
rs1344914553 CA404848751	33	W>R		No	ClinGen gnomAD
rs1384079408 CA404848777	35	D>N		No	ClinGen gnomAD
rs1455989988 CA404848787	36	A>D		No	ClinGen gnomAD
CA306254010 rs911810962	36	A>T		No	ClinGen TOPMed
rs1455989988 CA404848789	36	A>V		No	ClinGen gnomAD
rs1487520881 CA404848791	37	P>A		No	ClinGen TOPMed
rs202026240 CA306254015	37	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202026240 CA9313775	37	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1487520881 CA404848792	37	P>S		No	ClinGen TOPMed
rs937311862 CA306254044	38	I>V		No	ClinGen Ensembl
CA9313776 rs766369158	39	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA306254049 rs1055786375	39	R>W		No	ClinGen gnomAD
CA306254069 rs1038706758	40	T>M		No	ClinGen TOPMed gnomAD
TCGA novel	44	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568437196 CA404848837	45	I>T		No	ClinGen Ensembl
rs1314886804 CA404848846	46	H>Q		No	ClinGen gnomAD
TCGA novel	47	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404848872 rs1247161044	50	A>D		No	ClinGen gnomAD
CA404848874 rs1247161044	50	A>V		No	ClinGen gnomAD
rs1215993465 CA404848888	52	R>H		No	ClinGen TOPMed
rs1266036048 CA404848893	53	A>G		No	ClinGen gnomAD
CA404848890 rs1207013470	53	A>P		No	ClinGen gnomAD
CA404848889 rs1207013470	53	A>T		No	ClinGen gnomAD
rs1364835847 CA404848906	55	G>D		No	ClinGen TOPMed
rs1255455238 CA404848917	57	R>S		No	ClinGen gnomAD
CA404848924 rs1406071979	58	R>*		No	ClinGen TOPMed
rs754813233 CA9313778	59	L>Q		No	ClinGen ExAC gnomAD
CA404848934 rs1189061903	60	E>K		No	ClinGen gnomAD
CA306254103 rs777313864	61	E>K		No	ClinGen gnomAD
rs1249950388 CA404848966	62	W>C		No	ClinGen gnomAD
rs780516325 CA404848974	64	A>P		No	ClinGen ExAC gnomAD
rs780516325 CA9313806	64	A>T		No	ClinGen ExAC gnomAD
CA9313807 rs749700292	65	P>L		No	ClinGen ExAC gnomAD
CA404848986 rs1479824325	66	V>L		No	ClinGen TOPMed
CA404849001 rs1360820284 COSM3692527	68	G>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1028104975 CA306254505	71	A>S		No	ClinGen TOPMed
rs779288044 CA9313809	71	A>V		No	ClinGen ExAC TOPMed gnomAD
CA306254515 rs568055449	72	W>L		No	ClinGen 1000Genomes gnomAD
CA404849031 rs1280533446	73	G>V		No	ClinGen gnomAD
TCGA novel	74	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306254548 rs1018765097	74	R>C		No	ClinGen TOPMed gnomAD
rs1006491745 CA306254562	74	R>H		No	ClinGen Ensembl
rs1600643198 CA404849061	78	V>A		No	ClinGen Ensembl
rs772184115 CA9313811	78	V>F		No	ClinGen ExAC TOPMed gnomAD
CA306254570 rs1033516745	79	P>L		No	ClinGen TOPMed gnomAD
CA404849070 rs1484171561	80	T>K		No	ClinGen gnomAD
rs773209840 CA9313812	81	C>G		No	ClinGen ExAC gnomAD
CA9313813 rs759499673	82	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1477611394 CA404849084	82	R>L		No	ClinGen gnomAD
CA404849103 rs1427241278	85	H>R		No	ClinGen gnomAD
rs1435227626 CA404849108	86	R>G		No	ClinGen gnomAD
CA306254599 rs867939198	86	R>H		No	ClinGen Ensembl
rs1167455114 CA404849114	87	Q>*		No	ClinGen gnomAD
CA404849118 rs536711183 CA404849119	87	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA9313816 rs762743954	90	R>C		No	ClinGen ExAC gnomAD
CA404849135 rs1329034860	90	R>H		No	ClinGen gnomAD
rs1329034860 CA404849137	90	R>L		No	ClinGen gnomAD
rs1434837527 CA404849143	91	S>I		No	ClinGen gnomAD
rs200434887 CA9313817	93	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs992048466 CA306254653	93	P>R		No	ClinGen Ensembl
CA306254663 rs751199932	94	D>H		No	ClinGen ExAC gnomAD
CA9313818 rs751199932	94	D>N		No	ClinGen ExAC gnomAD
CA9313819 rs761439656	95	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1272589144 CA404849183	97	F>L		No	ClinGen gnomAD
rs767031412 CA404849192	99	R>C		No	ClinGen ExAC gnomAD
rs767031412 CA9313820	99	R>G		No	ClinGen ExAC gnomAD
rs1600643294 CA404849193	99	R>H		No	ClinGen Ensembl
CA306254709 rs977404569	100	Y>C		No	ClinGen TOPMed gnomAD
CA404849203 rs749922705	101	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9313821 rs749922705	101	R>W		No	ClinGen ExAC TOPMed gnomAD
CA404849208 rs1219161035	102	S>G		No	ClinGen gnomAD
CA9313822 rs756602522	102	S>R		No	ClinGen ExAC gnomAD
CA9313823 rs570530027	103	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1187792505 CA404849223	104	V>A		No	ClinGen gnomAD
CA9313825 rs374734666	105	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1167977997 CA404849232 CA404849233	106	G>R		No	ClinGen TOPMed gnomAD
rs1167977997 CA404849234	106	G>W		No	ClinGen TOPMed gnomAD
CA306254742 rs867857145	109	Q>K		No	ClinGen Ensembl
rs369060016 CA404849272	112	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9313826 rs369060016	112	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA404849275 rs1265130500	112	A>V		No	ClinGen TOPMed
CA404849281 rs1325969402	113	A>V		No	ClinGen gnomAD
CA404849282 rs1435018824	114	A>T		No	ClinGen gnomAD
CA404849297 rs1425432858	116	R>P		No	ClinGen TOPMed gnomAD
rs1425432858 CA404849295	116	R>Q		No	ClinGen TOPMed gnomAD
rs777863856 CA9313829	116	R>W		No	ClinGen ExAC gnomAD
rs747093719 CA9313830	117	E>A		No	ClinGen ExAC gnomAD
rs1274832704 CA404849329	122	E>Q		No	ClinGen gnomAD
rs935074263 CA306254808	125	L>Q		No	ClinGen TOPMed
CA306254819 rs866826827	127	G>R		No	ClinGen gnomAD
rs1193317165 CA404849367	128	P>S		No	ClinGen gnomAD
rs535364437 CA9313834	129	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs535364437 CA404849375	129	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA306254846 rs943621982	130	R>G		No	ClinGen Ensembl
rs1040583088 CA306254856	130	R>T		No	ClinGen TOPMed gnomAD
CA404849383 rs1418110603	131	Q>*		No	ClinGen gnomAD
CA306254863 rs901532512	132	P>L		No	ClinGen TOPMed gnomAD
rs1600643419 CA404849398	133	L>R		No	ClinGen Ensembl
rs774171859 CA404849399	134	L>I		No	ClinGen ExAC TOPMed gnomAD
rs774171859 CA9313835	134	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1338720002 CA404849416	137	H>N		No	ClinGen gnomAD
CA306254886 rs879685326 CA404849422	137	H>Q		No	ClinGen TOPMed gnomAD
CA9313836 rs761478417	138	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1328741870 CA404849429	139	R>C		No	ClinGen gnomAD
CA404849431 rs767105815	139	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9313837 rs767105815	139	R>L		No	ClinGen ExAC TOPMed gnomAD
CA404849443 rs1183194946	141	L>Q		No	ClinGen TOPMed
rs1265977113 CA404849448	142	Q>*		No	ClinGen gnomAD
rs772710765 CA9313838	145	E>K		No	ClinGen ExAC TOPMed gnomAD
CA404849467 rs772710765	145	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1568437639 CA404849476	146	Q>*		No	ClinGen Ensembl
rs1440264004 CA404849487	147	T>K		No	ClinGen gnomAD
CA404849492 rs1257846470	148	R>L		No	ClinGen TOPMed gnomAD
rs34396868 CA404849489	148	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA306254952 rs1005935020	149	L>M		No	ClinGen TOPMed gnomAD
CA404849500 rs1312709074	150	G>V		No	ClinGen TOPMed
CA9313840 rs574792249	151	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1236339580 CA404849540	155	L>P		No	ClinGen gnomAD
CA404849563 rs1252763050	158	M>I		No	ClinGen TOPMed gnomAD
TCGA novel	159	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9313852 rs774154507	160	T>M		No	ClinGen ExAC gnomAD
rs1265663701 CA404849581	161	P>S		No	ClinGen gnomAD
CA404849586 rs1171306633	162	E>Q		No	ClinGen TOPMed
CA9313854 rs34613961	164	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1198339 CA404849602 rs1201300352	164	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1230867107 CA404849606	165	G>E		No	ClinGen TOPMed gnomAD
rs1600644801 CA404849621	167	E>G		No	ClinGen Ensembl
CA404849627 rs1600644817	168	D>G		No	ClinGen Ensembl
rs35627056 CA9313856	168	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9313859 rs760074465	170	V>A		No	ClinGen ExAC TOPMed gnomAD
CA9313858 rs776326015	170	V>L		No	ClinGen ExAC gnomAD
CA9313860 rs765880307	171	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9313861 rs753041780	171	R>Q		No	ClinGen ExAC gnomAD
rs1016434093 CA306256098	172	M>K		No	ClinGen Ensembl
rs763244244 CA9313862	173	Q>R		No	ClinGen ExAC
CA404849666 rs764579564	174	Q>H		No	ClinGen ExAC
CA404849684 rs1600644858	177	M>K		No	ClinGen Ensembl
CA306257127 rs969959079	179	V>L		No	ClinGen TOPMed
rs985799927 CA306257133	180	I>V		No	ClinGen TOPMed gnomAD
CA404849740 rs1373227002	183	M>T		No	ClinGen TOPMed
rs549198470 CA9313884	185	A>V	Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750443765 CA9313886	187	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1161283698 CA404849775	188	E>D		No	ClinGen gnomAD
CA404849774 rs752544396	188	E>G		No	ClinGen ExAC TOPMed gnomAD
CA9313888 rs780243603	188	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9313889 rs752544396	188	E>V		No	ClinGen ExAC TOPMed gnomAD
rs372816674 CA9313891	189	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs372816674 CA9313890	189	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs181899139 CA9313893	192	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA9313892 rs375411532	192	D>V		No	ClinGen ESP ExAC gnomAD
rs1357008167 CA404849803	193	L>F		No	ClinGen TOPMed gnomAD
CA404849810 rs1568438639	194	R>T		No	ClinGen Ensembl
rs745576691 CA9313895	195	F>C		No	ClinGen ExAC gnomAD
CA404849832 rs573574113	197	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573574113 CA9313896	197	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763347524 CA9313898	198	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1042517336 CA306257211	200	A>T		No	ClinGen TOPMed gnomAD
rs774630941 CA404849853	201	E>*		No	ClinGen ExAC TOPMed gnomAD
rs762178954 CA9313901	201	E>G		No	ClinGen ExAC gnomAD
CA9313900 rs774630941	201	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9313902 rs767925994	202	E>C		No	ClinGen ExAC TOPMed gnomAD
CA404849863 rs767925994	202	E>W		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q96EN9

No regional properties for Q96EN9

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96EN9

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q17Q97	REX1BD	Required for excision 1-B domain-containing protein	Bos taurus (Bovine)	PR
Q9CYZ6	Rex1bd	Required for excision 1-B domain-containing protein	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MITETAAEPT	VPAVPAAEEA	TEARGREEPA	WPWKDAPIRT	LVQRIHQLQA	ERAQGFRRLE
70	80	90	100	110	120
EWLAPVQGLR	AWGRGLRVPT	CRRGHRQYLR	SGPDYDFARY	RSTVHGVTQA	FAAASREVLA
130	140	150	160	170	180
VEAELGGPRR	QPLLAGHVRS	LQELEQTRLG	TVALLQLMET	PELAGQEDAV	RMQQLKMKVI
190	200
KTMEAISEVL	QDLRFDAESA	E